ARID-like superfamily

SCOP classification

• Root: SCOP hierarchy in SUPERFAMILY [ 0] (11)
• Class: All alpha proteins [ 46456] (284)
• Fold: DNA/RNA-binding 3-helical bundle [ 46688] (14)
• Superfamily: ARID-like [ 46774]
• Families: ARID domain [ 46775] (4)

---

Superfamily statistics

	Genomes (471)	Uniprot 2018_03 genome	PDB chains (SCOP 1.75)
Domains	3,267	9,686	5
Proteins	3,264	9,654	5

---

Functional annotation

• General category: Regulation
• Detailed category: DNA-binding

---

Human Phenotype (HP)

Highlighted in gray are those with FDR_all>0.001

	HP term	FDR (all)	IC level	SDHP level	Annotation (direct or inherited)
Phenotypic Abnormality (PA)	Abnormality of the genital system	0	0.8625	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the phalanges of the 5th toe	0.00000003008	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the 5th toe	0.00000003008	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the phalanges of the 5th toe	0.00000003008	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the distal phalanx of the 5th toe	0.00000003008	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	0.00000003008	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	0.00000006647	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the distal phalanx of the 5th finger	0.00000009384	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the distal phalanges of the toes	0.0000004566	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the distal phalanges of the toes	0.0000008317	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Hypoplastic fingernail	0.000002174	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Partial agenesis of the corpus callosum	0.000002849	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the intervertebral disk	0.000002849	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Short distal phalanx of finger	0.000004363	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of hair growth rate	0.000005205	1.929	--	DIRECT
Phenotypic Abnormality (PA)	Hypoplastic toenails	0.000009597	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal distal phalanx morphology of finger	0.00001255	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Ectopic kidney	0.0000204	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Absent toe	0.00002538	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Bilateral single transverse palmar creases	0.00002901	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Coxa valga	0.00003544	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Spina bifida occulta	0.0000378	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Aplastic/hypoplastic toenail	0.0000482	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the phalanges of the hand	0.00004894	1.804	--	DIRECT
Phenotypic Abnormality (PA)	Elbow dislocation	0.00005108	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Upper extremity joint dislocation	0.00007116	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia involving bones of the feet	0.00007625	1.804	--	DIRECT
Phenotypic Abnormality (PA)	Dandy-Walker malformation	0.00008716	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Widened posterior fossa	0.0000916	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Short finger	0.00009431	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Dilated fourth ventricle	0.0001206	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the fourth ventricle	0.0001206	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of hair growth	0.0001212	1.929	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the posterior cranial fossa	0.000143	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Small nail	0.0001617	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Cryptorchidism	0.000181	1.708	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of fingers	0.000181	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Depressed nasal ridge	0.000182	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/hypoplasia involving bones of the lower limbs	0.000206	1.708	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal toenail morphology	0.0002105	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the femoral neck	0.0002433	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Single transverse palmar crease	0.0002613	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Delayed speech and language development	0.0002875	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal localization of kidney	0.0003087	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Spina bifida	0.000374	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the femoral neck or head region	0.0004104	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Cerebellar vermis hypoplasia	0.0005305	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the palmar creases	0.0005305	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Thick lower lip vermilion	0.0005753	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal palmar dermatoglyphics	0.0005907	2.407	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal renal pelvis morphology	0.0005907	1.929	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal fingernail morphology	0.0006223	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the nails	0.0007805	2.106	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal conjugate eye movement	0.0008422	1.804	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of upper limb joint	0.001005	1.804	--	INHERITED FROM: Elbow dislocation
Phenotypic Abnormality (PA)	Central nervous system cyst	0.001035	2.106	--	INHERITED FROM: Cerebellar cyst || Dandy-Walker malformation
Phenotypic Abnormality (PA)	Abnormal dermatoglyphics	0.001214	2.407	--	INHERITED FROM: Single transverse palmar crease || Abnormal palmar dermatoglyphics || Abnormality of the palmar creases || Bilateral single transverse palmar creases
Phenotypic Abnormality (PA)	Aplasia/hypoplasia involving bones of the upper limbs	0.001229	1.929	--	INHERITED FROM: Short finger || Aplasia/Hypoplasia of fingers || Short distal phalanx of finger || Aplasia/hypoplasia involving bones of the hand
Phenotypic Abnormality (PA)	Abnormality of the skull base	0.001432	2.407	--	INHERITED FROM: Dandy-Walker malformation || Abnormality of the posterior cranial fossa || Widened posterior fossa
Phenotypic Abnormality (PA)	Abnormality of male external genitalia	0.001446	1.293	--	INHERITED FROM: Cryptorchidism || Abnormal testis morphology
Phenotypic Abnormality (PA)	Abnormality of the cerebellar vermis	0.001471	1.929	--	INHERITED FROM: Dandy-Walker malformation || Aplasia/Hypoplasia of the cerebellar vermis || Cerebellar vermis hypoplasia
Phenotypic Abnormality (PA)	Abnormal external genitalia	0.001715	1.23	--	INHERITED FROM: Cryptorchidism || Abnormal testis morphology
Phenotypic Abnormality (PA)	Abnormality of the male genitalia	0.001764	1.26	--	INHERITED FROM: Abnormal testis morphology || Cryptorchidism
Phenotypic Abnormality (PA)	Abnormal neural tube morphology	0.001797	1.929	--	INHERITED FROM: Spina bifida || Spina bifida occulta || Spinal dysraphism
Phenotypic Abnormality (PA)	Aplasia/hypoplasia involving bones of the extremities	0.002232	1.561	--	INHERITED FROM: Aplasia/Hypoplasia involving bones of the feet || Short finger || Absent toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Aplasia/Hypoplasia of the 5th toe || Aplasia/hypoplasia involving bones of the hand || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of fingers || Short distal phalanx of finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Phenotypic Abnormality (PA)	Cerebellar malformation	0.002891	1.804	--	INHERITED FROM: Aplasia/Hypoplasia of the cerebellar vermis || Cerebellar cyst || Cerebellar vermis hypoplasia || Dandy-Walker malformation
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the phalanges of the toes	0.002969	2.106	--	INHERITED FROM: Aplasia/Hypoplasia of the distal phalanges of the toes || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the phalanges of the 5th toe
Phenotypic Abnormality (PA)	Abnormality of the knee	0.003358	1.804	--	INHERITED FROM: Abnormal patella morphology
Phenotypic Abnormality (PA)	Abnormal corpus callosum morphology	0.004481	1.708	--	INHERITED FROM: Partial agenesis of the corpus callosum || Hypoplasia of the corpus callosum
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the cerebrum	0.004562	1.293	--	INHERITED FROM: Hypoplasia of the corpus callosum || Partial agenesis of the corpus callosum
Phenotypic Abnormality (PA)	Abnormality of the ocular adnexa	0.005558	1.176	--	INHERITED FROM: Thick eyebrow || Long eyelashes
Phenotypic Abnormality (PA)	Abnormality of the orbital region	0.006238	1.176	--	INHERITED FROM: Long eyelashes || Thick eyebrow
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the phalanges of the 5th finger	0.006706	2.106	--	INHERITED FROM: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Phenotypic Abnormality (PA)	Abnormality of the spinal cord	0.009774	1.929	--	INHERITED FROM: Spina bifida occulta || Spinal dysraphism || Spina bifida
Phenotypic Abnormality (PA)	Vascular skin abnormality	0.01479	1.628	--	INHERITED FROM: Cutis marmorata
Phenotypic Abnormality (PA)	Abnormality of the cerebrum	0.01529	1.009	--	INHERITED FROM: Partial agenesis of the corpus callosum || Hypoplasia of the corpus callosum
Phenotypic Abnormality (PA)	Ventriculomegaly	0.01732	2.106	--	INHERITED FROM: Dilated fourth ventricle || Dandy-Walker malformation
Phenotypic Abnormality (PA)	Abnormality of finger	0.01738	1.327	--	INHERITED FROM: Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of fingers || Short phalanx of finger || Aplasia/Hypoplasia of the distal phalanges of the hand || Short finger || Abnormality of the distal phalanx of the 5th finger || Abnormal 5th finger phalanx morphology || Abnormal distal phalanx morphology of finger || Short distal phalanx of finger || Aplasia/Hypoplasia of the phalanges of the hand
Phenotypic Abnormality (PA)	Abnormal eyelash morphology	0.02008	1.804	--	INHERITED FROM: Long eyelashes
Phenotypic Abnormality (PA)	Abnormal hair morphology	0.0214	1.26	--	INHERITED FROM: Thick eyebrow || Long eyelashes || Slow-growing hair || Abnormality of hair growth || Generalized hirsutism || Abnormality of hair growth rate
Phenotypic Abnormality (PA)	Abnormality of joint mobility	0.02245	1.202	--	INHERITED FROM: Joint hyperflexibility
Phenotypic Abnormality (PA)	Abnormal oral morphology	0.02605	0.8625	--	INHERITED FROM: Thick lower lip vermilion || Wide mouth || Abnormal lip morphology
Phenotypic Abnormality (PA)	Neurodevelopmental delay	0.02869	1.176	--	INHERITED FROM: Delayed speech and language development
Phenotypic Abnormality (PA)	Abnormality of the nasal dorsum	0.02981	2.407	--	INHERITED FROM: Depressed nasal ridge
Phenotypic Abnormality (PA)	Abnormality of the foot	0.03233	1.106	--	INHERITED FROM: Abnormality of the 5th toe || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the 5th toe || Abnormality of the distal phalanges of the toes || Abnormality of the phalanges of the toes || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia involving bones of the feet || Absent toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe
Phenotypic Abnormality (PA)	Abnormal digit morphology	0.03378	1.202	--	INHERITED FROM: Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/Hypoplasia of the 5th toe || Abnormal 5th finger phalanx morphology || Abnormal distal phalanx morphology of finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/Hypoplasia of the phalanges of the 5th toe || Abnormality of the distal phalanges of the toes || Abnormality of the phalanges of the toes || Short finger || Abnormality of the distal phalanx of the 5th finger || Short distal phalanx of finger || Aplasia/Hypoplasia of the distal phalanges of the toes || Absent toe || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Short phalanx of finger
Phenotypic Abnormality (PA)	Abnormality of mouth size	0.03378	1.804	--	INHERITED FROM: Wide mouth
Phenotypic Abnormality (PA)	Abnormality of the mouth	0.03392	0.8383	--	INHERITED FROM: Abnormal lip morphology || Wide mouth || Thick lower lip vermilion
Phenotypic Abnormality (PA)	Abnormality of the hand	0.03914	1.064	--	INHERITED FROM: Short phalanx of finger || Abnormality of the palmar creases || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Short distal phalanx of finger || Abnormality of the distal phalanx of the 5th finger || Short finger || Abnormal palmar dermatoglyphics || Abnormal hand morphology || Single transverse palmar crease || Aplasia/Hypoplasia of fingers || Abnormality of the palm || Aplasia/hypoplasia involving bones of the hand || Abnormal distal phalanx morphology of finger || Aplasia/Hypoplasia of the phalanges of the hand || Abnormal 5th finger phalanx morphology || Bilateral single transverse palmar creases || Aplasia/Hypoplasia of the distal phalanges of the hand
Phenotypic Abnormality (PA)	Aplasia/hypoplasia involving the skeleton	0.04023	1.293	--	INHERITED FROM: Aplasia/Hypoplasia of fingers || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Short distal phalanx of finger || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/hypoplasia involving bones of the hand || Aplasia/Hypoplasia of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Absent toe || Short finger || Aplasia/Hypoplasia involving bones of the feet
Phenotypic Abnormality (PA)	Hirsutism	0.04756	2.106	--	INHERITED FROM: Generalized hirsutism
Phenotypic Abnormality (PA)	Abnormality of brain morphology	0.0537	0.7731	--	INHERITED FROM: Dandy-Walker malformation || Partial agenesis of the corpus callosum || Hypoplasia of the corpus callosum || Abnormality of the fourth ventricle || Dilated fourth ventricle || Cerebellar cyst || Aplasia/Hypoplasia of the cerebellar vermis || Cerebellar vermis hypoplasia
Phenotypic Abnormality (PA)	Abnormal axial skeleton morphology	0.06208	0.7344	--	INHERITED FROM: Abnormality of the posterior cranial fossa || Abnormality of the intervertebral disk || Widened posterior fossa || Dandy-Walker malformation
Phenotypic Abnormality (PA)	Morphological abnormality of the central nervous system	0.08028	0.6284	--	INHERITED FROM: Hypoplasia of the corpus callosum || Spina bifida occulta || Partial agenesis of the corpus callosum || Aplasia/Hypoplasia of the cerebellar vermis || Cerebellar cyst || Spinal dysraphism || Dilated fourth ventricle || Abnormality of the fourth ventricle || Spina bifida || Dandy-Walker malformation || Cerebellar vermis hypoplasia
Phenotypic Abnormality (PA)	Abnormal 5th finger morphology	0.08648	1.804	--	INHERITED FROM: Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the distal phalanx of the 5th finger || Abnormal 5th finger phalanx morphology
Phenotypic Abnormality (PA)	Abnormality of limb bone	0.09	0.9441	--	INHERITED FROM: Aplasia/Hypoplasia of the distal phalanges of the hand || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/Hypoplasia involving bones of the feet || Abnormality of the phalanges of the toes || Short finger || Short distal phalanx of finger || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Abnormality of the femoral neck || Aplasia/Hypoplasia of the 5th toe || Abnormal distal phalanx morphology of finger || Coxa valga || Abnormality of the distal phalanges of the toes || Aplasia/hypoplasia involving bones of the hand || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of fingers || Abnormality of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Absent toe || Short phalanx of finger || Abnormality of the femoral neck or head region
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the corpus callosum	0.1038	1.708	--	INHERITED FROM: Partial agenesis of the corpus callosum || Hypoplasia of the corpus callosum
Phenotypic Abnormality (PA)	Abnormality of lower lip	0.104	2.407	--	INHERITED FROM: Thick lower lip vermilion
Phenotypic Abnormality (PA)	Thick vermilion border	0.1053	2.407	--	INHERITED FROM: Thick lower lip vermilion
Phenotypic Abnormality (PA)	Abnormal eyebrow morphology	0.1064	1.804	--	INHERITED FROM: Thick eyebrow
Phenotypic Abnormality (PA)	Abnormality of the face	0.1065	0.5614	--	INHERITED FROM: Thick eyebrow || Long eyelashes || Thick lower lip vermilion || Abnormality of the nasal bridge || Abnormal lip morphology || Wide mouth || Depressed nasal ridge
Phenotypic Abnormality (PA)	Abnormality of the kidney	0.119	1.176	--	INHERITED FROM: Abnormal localization of kidney || Dilatation of the renal pelvis || Ectopic kidney || Abnormal renal pelvis morphology
Phenotypic Abnormality (PA)	Abnormality of the cerebral subcortex	0.1334	1.628	--	INHERITED FROM: Partial agenesis of the corpus callosum || Hypoplasia of the corpus callosum
Phenotypic Abnormality (PA)	Abnormality of the skeletal system	0.1447	0.4621	--	INHERITED FROM: Abnormality of the intervertebral disk || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/hypoplasia involving bones of the hand || Elbow dislocation || Abnormality of the distal phalanges of the toes || Aplasia/Hypoplasia of the 5th toe || Abnormal distal phalanx morphology of finger || Coxa valga || Abnormality of the posterior cranial fossa || Widened posterior fossa || Absent toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the femoral neck or head region || Short phalanx of finger || Abnormality of the distal phalanx of the 5th finger || Abnormal patella morphology || Aplasia/Hypoplasia involving bones of the feet || Dandy-Walker malformation || Upper extremity joint dislocation || Abnormality of the phalanges of the toes || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the femoral neck || Joint hyperflexibility || Short finger || Short distal phalanx of finger
Phenotypic Abnormality (PA)	Abnormality of the skin	0.1447	0.8751	--	INHERITED FROM: Bilateral single transverse palmar creases || Abnormal palmar dermatoglyphics || Single transverse palmar crease || Abnormality of the palmar creases || Cutis marmorata
Phenotypic Abnormality (PA)	Abnormality of hindbrain morphology	0.1447	1.708	--	INHERITED FROM: Aplasia/Hypoplasia of the cerebellar vermis || Cerebellar vermis hypoplasia || Cerebellar cyst || Dandy-Walker malformation
Phenotypic Abnormality (PA)	Abnormality of the external nose	0.1462	2.407	--	INHERITED FROM: Depressed nasal ridge
Phenotypic Abnormality (PA)	Abnormal appendicular skeleton morphology	0.1496	0.8625	--	INHERITED FROM: Short phalanx of finger || Abnormality of the femoral neck or head region || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Absent toe || Abnormality of the distal phalanx of the 5th finger || Abnormality of the distal phalanges of the toes || Aplasia/hypoplasia involving bones of the hand || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of fingers || Abnormal distal phalanx morphology of finger || Coxa valga || Aplasia/Hypoplasia of the 5th toe || Abnormality of the femoral neck || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Short distal phalanx of finger || Short finger || Abnormality of the phalanges of the toes || Aplasia/Hypoplasia involving bones of the feet || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the hand || Abnormal 5th finger phalanx morphology
Phenotypic Abnormality (PA)	Abnormality of head or neck	0.1576	0.472	--	INHERITED FROM: Dandy-Walker malformation || Long eyelashes || Thick lower lip vermilion || Wide mouth || Depressed nasal ridge || Thick eyebrow || Widened posterior fossa || Abnormality of the nasal bridge || Abnormality of the posterior cranial fossa || Abnormal lip morphology
Phenotypic Abnormality (PA)	Abnormality of the nervous system	0.338	0.2543	--	INHERITED FROM: Cerebellar cyst || Aplasia/Hypoplasia of the cerebellar vermis || Hypoplasia of the corpus callosum || Cerebellar vermis hypoplasia || Spina bifida || Dilated fourth ventricle || Abnormality of the fourth ventricle || Spinal dysraphism || Partial agenesis of the corpus callosum || Spina bifida occulta || Delayed speech and language development || Dandy-Walker malformation
Phenotypic Abnormality (PA)	Abnormality of the urinary system	0.6862	0.8268	--	INHERITED FROM: Abnormal localization of kidney || Ectopic kidney || Abnormal renal pelvis morphology || Dilatation of the renal pelvis
Phenotypic Abnormality (PA)	Intracranial cystic lesion	1	2.106	--	INHERITED FROM: Dandy-Walker malformation || Cerebellar cyst
Phenotypic Abnormality (PA)	Abnormality of the metencephalon	1	1.708	--	INHERITED FROM: Aplasia/Hypoplasia of the cerebellar vermis || Dandy-Walker malformation || Cerebellar vermis hypoplasia || Cerebellar cyst
Phenotypic Abnormality (PA)	Neural tube defect	1	1.929	--	INHERITED FROM: Spina bifida || Spina bifida occulta || Spinal dysraphism
Phenotypic Abnormality (PA)	Abnormality of the genitourinary system	0	0.5432	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the musculature	0.09646	0.6004	Least Informative	INHERITED FROM: Abnormality of the diaphragm
Phenotypic Abnormality (PA)	Abnormality of nervous system morphology	0.1175	0.5677	Least Informative	INHERITED FROM: Cerebellar cyst || Spinal dysraphism || Aplasia/Hypoplasia of the cerebellar vermis || Partial agenesis of the corpus callosum || Hypoplasia of the corpus callosum || Spina bifida occulta || Cerebellar vermis hypoplasia || Dandy-Walker malformation || Spina bifida || Dilated fourth ventricle || Abnormality of the fourth ventricle
Phenotypic Abnormality (PA)	Abnormality of skeletal morphology	0.1257	0.472	Least Informative	INHERITED FROM: Abnormality of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the femoral neck || Short finger || Short distal phalanx of finger || Aplasia/Hypoplasia involving bones of the feet || Dandy-Walker malformation || Abnormality of the phalanges of the toes || Upper extremity joint dislocation || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Abnormality of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Widened posterior fossa || Abnormality of the posterior cranial fossa || Absent toe || Abnormality of the femoral neck or head region || Short phalanx of finger || Abnormality of the distal phalanx of the 5th finger || Abnormal patella morphology || Abnormality of the intervertebral disk || Elbow dislocation || Aplasia/hypoplasia involving bones of the hand || Abnormality of the distal phalanges of the toes || Aplasia/Hypoplasia of fingers || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of the 5th toe || Coxa valga || Abnormal distal phalanx morphology of finger
Phenotypic Abnormality (PA)	Abnormality of the eye	0.1262	0.6004	Least Informative	INHERITED FROM: Lacrimation abnormality || Strabismus || Abnormal conjugate eye movement
Phenotypic Abnormality (PA)	Abnormality of limbs	0.1445	0.6431	Least Informative	INHERITED FROM: Coxa valga || Abnormal distal phalanx morphology of finger || Aplasia/Hypoplasia of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/hypoplasia involving bones of the hand || Elbow dislocation || Abnormality of the distal phalanges of the toes || Abnormal patella morphology || Abnormality of the distal phalanx of the 5th finger || Abnormal palmar dermatoglyphics || Single transverse palmar crease || Abnormality of the femoral neck or head region || Short phalanx of finger || Abnormality of the palmar creases || Absent toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs || Abnormality of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Bilateral single transverse palmar creases || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Abnormality of the palm || Abnormality of the phalanges of the toes || Aplasia/Hypoplasia involving bones of the feet || Short distal phalanx of finger || Short finger || Abnormal hand morphology || Abnormality of the femoral neck || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes
Phenotypic Abnormality (PA)	Abnormality of the head	0.1531	0.4771	Least Informative	INHERITED FROM: Thick lower lip vermilion || Long eyelashes || Dandy-Walker malformation || Depressed nasal ridge || Wide mouth || Thick eyebrow || Widened posterior fossa || Abnormality of the nasal bridge || Abnormality of the posterior cranial fossa || Abnormal lip morphology
Phenotypic Abnormality (PA)	Abnormality of the integument	0.2456	0.7253	Least Informative	INHERITED FROM: Small nail || Abnormal fingernail morphology || Hypoplastic fifth toenail || Generalized hirsutism || Cutis marmorata || Long eyelashes || Aplastic/hypoplastic toenail || Hypoplastic toenails || Abnormal toenail morphology || Aplasia/Hypoplasia of the nails || Hypoplastic fingernail || Thick eyebrow || Abnormality of the palmar creases || Abnormality of hair growth rate || Single transverse palmar crease || Bilateral single transverse palmar creases || Abnormal palmar dermatoglyphics || Abnormality of hair growth || Hypoplastic fifth fingernail || Slow-growing hair
Phenotypic Abnormality (PA)	Abnormality of the cardiovascular system	0.253	0.6284	Least Informative	INHERITED FROM: Cutis marmorata
Phenotypic Abnormality (PA)	Abnormality of nervous system physiology	0.2553	0.4022	Least Informative	INHERITED FROM: Delayed speech and language development
Phenotypic Abnormality (PA)	Abnormal ocular adnexa morphology	0.005169	1.176	Moderately Informative	INHERITED FROM: Thick eyebrow || Long eyelashes
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia involving the central nervous system	0.01005	1.128	Moderately Informative	INHERITED FROM: Hypoplasia of the corpus callosum || Partial agenesis of the corpus callosum
Phenotypic Abnormality (PA)	Abnormality of forebrain morphology	0.0164	0.9916	Moderately Informative	INHERITED FROM: Partial agenesis of the corpus callosum || Hypoplasia of the corpus callosum
Phenotypic Abnormality (PA)	Abnormality of skin adnexa morphology	0.03301	1.202	Moderately Informative	INHERITED FROM: Abnormality of hair growth || Abnormality of hair growth rate || Hypoplastic fifth fingernail || Slow-growing hair || Hypoplastic toenails || Abnormal toenail morphology || Aplasia/Hypoplasia of the nails || Hypoplastic fingernail || Thick eyebrow || Abnormal fingernail morphology || Generalized hirsutism || Hypoplastic fifth toenail || Long eyelashes || Aplastic/hypoplastic toenail || Small nail
Phenotypic Abnormality (PA)	Abnormal skull morphology	0.034	1.009	Moderately Informative	INHERITED FROM: Widened posterior fossa || Abnormality of the posterior cranial fossa || Dandy-Walker malformation
Phenotypic Abnormality (PA)	Abnormal joint morphology	0.0416	1.128	Moderately Informative	INHERITED FROM: Elbow dislocation || Upper extremity joint dislocation || Abnormal patella morphology
Phenotypic Abnormality (PA)	Abnormality of the upper limb	0.05024	0.9441	Moderately Informative	INHERITED FROM: Bilateral single transverse palmar creases || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/Hypoplasia of the phalanges of the hand || Abnormal distal phalanx morphology of finger || Elbow dislocation || Aplasia/hypoplasia involving bones of the hand || Aplasia/Hypoplasia of fingers || Abnormality of the palm || Abnormal hand morphology || Single transverse palmar crease || Abnormality of the distal phalanx of the 5th finger || Short finger || Abnormal palmar dermatoglyphics || Short distal phalanx of finger || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the palmar creases || Short phalanx of finger
Phenotypic Abnormality (PA)	Abnormality of limb bone morphology	0.05256	0.9441	Moderately Informative	INHERITED FROM: Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/hypoplasia involving bones of the hand || Abnormality of the distal phalanges of the toes || Aplasia/Hypoplasia of the 5th toe || Abnormal distal phalanx morphology of finger || Coxa valga || Absent toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Abnormality of the femoral neck or head region || Short phalanx of finger || Abnormality of the distal phalanx of the 5th finger || Aplasia/Hypoplasia involving bones of the feet || Abnormality of the phalanges of the toes || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Abnormality of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the femoral neck || Short finger || Short distal phalanx of finger
Phenotypic Abnormality (PA)	Abnormal eye physiology	0.05425	0.8751	Moderately Informative	INHERITED FROM: Lacrimation abnormality || Strabismus || Abnormal conjugate eye movement
Phenotypic Abnormality (PA)	Abnormality of the lower limb	0.05619	0.9152	Moderately Informative	INHERITED FROM: Aplasia/Hypoplasia involving bones of the feet || Abnormality of the distal phalanges of the toes || Abnormality of the phalanges of the toes || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/Hypoplasia of the 5th toe || Abnormality of the 5th toe || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs || Coxa valga || Abnormality of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Absent toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Abnormality of the femoral neck or head region || Abnormality of the femoral neck || Abnormal patella morphology
Phenotypic Abnormality (PA)	Neurodevelopmental abnormality	0.07701	0.8502	Moderately Informative	INHERITED FROM: Delayed speech and language development
Phenotypic Abnormality (PA)	Abnormality of skeletal physiology	0.09506	1.176	Moderately Informative	INHERITED FROM: Joint hyperflexibility
Phenotypic Abnormality (PA)	Abnormality of skin morphology	0.1158	0.9441	Moderately Informative	INHERITED FROM: Abnormality of the palmar creases || Cutis marmorata || Single transverse palmar crease || Bilateral single transverse palmar creases || Abnormal palmar dermatoglyphics
Phenotypic Abnormality (PA)	Abnormal skeletal muscle morphology	0.2392	0.9294	Moderately Informative	INHERITED FROM: Abnormality of the diaphragm
Phenotypic Abnormality (PA)	Abnormality of the vasculature	0.3758	0.8625	Moderately Informative	INHERITED FROM: Cutis marmorata
Phenotypic Abnormality (PA)	Abnormality of the upper urinary tract	0.3809	1.084	Moderately Informative	INHERITED FROM: Abnormal localization of kidney || Dilatation of the renal pelvis || Abnormal renal pelvis morphology || Ectopic kidney
Phenotypic Abnormality (PA)	Abnormality of the vertebral column	0.4315	1.064	Moderately Informative	INHERITED FROM: Abnormality of the intervertebral disk
Phenotypic Abnormality (PA)	Abnormal reproductive system morphology	0.6632	0.9594	Moderately Informative	INHERITED FROM: Abnormal testis morphology || Cryptorchidism
Phenotypic Abnormality (PA)	Abnormal oral cavity morphology	1	0.9594	Moderately Informative	INHERITED FROM: Abnormal lip morphology || Wide mouth || Thick lower lip vermilion
Phenotypic Abnormality (PA)	Abnormality of the palm	0.0002429	1.628	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal testis morphology	0.0006704	1.452	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal lip morphology	0.0009727	1.708	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal eyelid morphology	0.002571	1.407	Informative	INHERITED FROM: Long eyelashes
Phenotypic Abnormality (PA)	Abnormal finger phalanx morphology	0.002667	1.503	Informative	INHERITED FROM: Aplasia/Hypoplasia of the distal phalanges of the hand || Abnormal 5th finger phalanx morphology || Abnormality of the distal phalanx of the 5th finger || Abnormal distal phalanx morphology of finger || Short distal phalanx of finger || Aplasia/Hypoplasia of the phalanges of the hand || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Short phalanx of finger
Phenotypic Abnormality (PA)	Abnormal hair quantity	0.002667	1.708	Informative	INHERITED FROM: Generalized hirsutism
Phenotypic Abnormality (PA)	Abnormal lower limb bone morphology	0.002816	1.365	Informative	INHERITED FROM: Abnormality of the femoral neck or head region || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the femoral neck || Coxa valga || Aplasia/Hypoplasia involving bones of the feet || Aplasia/Hypoplasia of the 5th toe || Absent toe || Aplasia/Hypoplasia of the distal phalanges of the toes
Phenotypic Abnormality (PA)	Aplasia/hypoplasia of the extremities	0.002865	1.503	Informative	INHERITED FROM: Aplasia/Hypoplasia involving bones of the feet || Aplasia/Hypoplasia of the 5th toe || Absent toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Short finger || Aplasia/hypoplasia involving bones of the hand || Short distal phalanx of finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs
Phenotypic Abnormality (PA)	Abnormality of the cerebral white matter	0.007295	1.628	Informative	INHERITED FROM: Partial agenesis of the corpus callosum || Hypoplasia of the corpus callosum
Phenotypic Abnormality (PA)	Abnormality of eye movement	0.009392	1.503	Informative	INHERITED FROM: Abnormal conjugate eye movement || Strabismus
Phenotypic Abnormality (PA)	Abnormality of the nose	0.01075	1.327	Informative	INHERITED FROM: Depressed nasal ridge || Abnormality of the nasal bridge
Phenotypic Abnormality (PA)	Regional abnormality of skin	0.01262	1.628	Informative	INHERITED FROM: Single transverse palmar crease || Abnormal palmar dermatoglyphics || Abnormality of the palmar creases || Bilateral single transverse palmar creases
Phenotypic Abnormality (PA)	Joint hypermobility	0.03412	1.708	Informative	INHERITED FROM: Joint hyperflexibility
Phenotypic Abnormality (PA)	Abnormal cerebellum morphology	0.04094	1.708	Informative	INHERITED FROM: Aplasia/Hypoplasia of the cerebellar vermis || Dandy-Walker malformation || Cerebellar vermis hypoplasia || Cerebellar cyst
Phenotypic Abnormality (PA)	Abnormality of lower limb joint	0.05612	1.407	Informative	INHERITED FROM: Abnormal patella morphology
Phenotypic Abnormality (PA)	Abnormal renal morphology	0.06157	1.26	Informative	INHERITED FROM: Abnormal localization of kidney || Dilatation of the renal pelvis || Abnormal renal pelvis morphology || Ectopic kidney
Phenotypic Abnormality (PA)	Joint dislocation	0.06901	1.628	Informative	INHERITED FROM: Upper extremity joint dislocation || Elbow dislocation
Phenotypic Abnormality (PA)	Abnormality of the nail	0.07262	1.708	Informative	INHERITED FROM: Hypoplastic fifth toenail || Abnormal toenail morphology || Aplasia/Hypoplasia of the nails || Abnormal fingernail morphology || Small nail || Hypoplastic toenails || Hypoplastic fingernail || Hypoplastic fifth fingernail || Aplastic/hypoplastic toenail
Phenotypic Abnormality (PA)	Abnormality of toe	0.07433	1.628	Informative	INHERITED FROM: Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the 5th toe || Aplasia/Hypoplasia of the 5th toe || Aplasia/Hypoplasia of the phalanges of the 5th toe || Abnormality of the distal phalanges of the toes || Abnormality of the phalanges of the toes || Abnormality of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Absent toe || Aplasia/Hypoplasia of the distal phalanges of the toes
Phenotypic Abnormality (PA)	Generalized abnormality of skin	0.1753	1.503	Informative	INHERITED FROM: Cutis marmorata
Phenotypic Abnormality (PA)	Hypoplastic fifth fingernail	0.00000003008	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Hypoplastic fifth toenail	0.00000004564	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Slow-growing hair	0.00000468	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the distal phalanges of the hand	0.000004796	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the 5th toe	0.00001487	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Short phalanx of finger	0.00002738	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Cutis marmorata	0.00002901	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal patella morphology	0.00004025	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Long eyelashes	0.000083	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Thick eyebrow	0.0001156	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Generalized hirsutism	0.0001156	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Cerebellar cyst	0.0001206	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Lacrimation abnormality	0.0001361	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the phalanges of the toes	0.000196	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal 5th finger phalanx morphology	0.0002217	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal hand morphology	0.0002891	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the diaphragm	0.0003664	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Wide mouth	0.0003977	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Hypoplasia of the corpus callosum	0.0004851	1.804	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Spinal dysraphism	0.0004879	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Dilatation of the renal pelvis	0.0005604	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Strabismus	0.0006977	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nasal bridge	0.0008771	2.106	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the cerebellar vermis	0.0008787	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Aplasia/hypoplasia involving bones of the hand	0.0009022	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Joint hyperflexibility	0.0009383	1.929	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Short digit	0.001513	1.929	Highly Informative	INHERITED FROM: Short finger || Short distal phalanx of finger
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of toe	0.01446	1.929	Highly Informative	INHERITED FROM: Absent toe || Aplasia/Hypoplasia of the distal phalanges of the toes || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the 5th toe
Phenotypic Abnormality (PA)	Abnormality of femur morphology	0.09006	1.929	Highly Informative	INHERITED FROM: Coxa valga || Abnormality of the femoral neck || Abnormality of the femoral neck or head region
Phenotypic Abnormality (PA)	Agenesis of corpus callosum	0.1062	2.106	Highly Informative	INHERITED FROM: Partial agenesis of the corpus callosum
Phenotypic Abnormality (PA)	Abnormality of the cerebral ventricles	0.1189	1.929	Highly Informative	INHERITED FROM: Abnormality of the fourth ventricle || Dandy-Walker malformation || Dilated fourth ventricle
Phenotypic Abnormality (PA)	Abnormality of the elbow	0.1728	2.106	Highly Informative	INHERITED FROM: Elbow dislocation
Phenotypic Abnormality (PA)	Abnormality of the skin of the palm	0.2478	1.804	Highly Informative	INHERITED FROM: Abnormal palmar dermatoglyphics || Bilateral single transverse palmar creases || Abnormality of the palmar creases || Single transverse palmar crease

---

Mouse Phenotype (MP)

Highlighted in gray are those with FDR_all>0.001

	MP term	FDR (all)	IC level	SDMP level	Annotation (direct or inherited)
Mammalian Phenotype (MP)	abnormal hematopoietic cell morphology	0.000807	0.8177	--	DIRECT
Mammalian Phenotype (MP)	abnormal hematopoietic system morphology/development	0.001988	0.7444	--	INHERITED FROM: abnormal hematopoietic stem cell morphology || abnormal hematopoietic cell morphology
Mammalian Phenotype (MP)	hematopoietic system phenotype	0.005472	0.6505	Least Informative	INHERITED FROM: abnormal hematopoietic cell morphology || abnormal hematopoietic stem cell morphology
Mammalian Phenotype (MP)	abnormal hematopoietic stem cell morphology	0.0003407	2.207	Highly Informative	DIRECT

---

Worm Phenotype (WP)

Highlighted in gray are those with FDR_all>0.001

	WP term	FDR (all)	IC level	SDWP level	Annotation (direct or inherited)
Worm Phenotype (WP)	growth variant	0	0.4022	--	DIRECT
Worm Phenotype (WP)	slow growth	0	0.5903	--	DIRECT
Worm Phenotype (WP)	developmental timing variant	0	0.5373	--	DIRECT
Worm Phenotype (WP)	postembryonic development variant	0	0.3347	--	DIRECT
Worm Phenotype (WP)	embryonic lethal	0	0.07108	--	DIRECT
Worm Phenotype (WP)	larval arrest	0	0.5677	--	DIRECT
Worm Phenotype (WP)	lethal	0	0.01121	--	DIRECT
Worm Phenotype (WP)	progeny variant	0	0.7582	--	DIRECT
Worm Phenotype (WP)	fertility variant	0	0.08329	--	DIRECT
Worm Phenotype (WP)	development variant	0	0.001706	--	DIRECT
Worm Phenotype (WP)	morphology variant	0	0.06117	--	DIRECT
Worm Phenotype (WP)	organism development variant	0	0.004279	--	DIRECT
Worm Phenotype (WP)	organism morphology variant	0	0.2011	--	DIRECT
Worm Phenotype (WP)	organ system physiology variant	0	0.05921	--	DIRECT
Worm Phenotype (WP)	organism physiology variant	0	0.1405	--	DIRECT
Worm Phenotype (WP)	organism homeostasis metabolism variant	0	0.1501	--	DIRECT
Worm Phenotype (WP)	reproductive system physiology variant	0	0.07209	--	DIRECT
Worm Phenotype (WP)	maternal sterile	0	0.171	--	DIRECT
Worm Phenotype (WP)	hermaphrodite sterile	0	0.1685	--	DIRECT
Worm Phenotype (WP)	embryonic development variant	0	0.06709	--	DIRECT
Worm Phenotype (WP)	hermaphrodite fertility variant	0	0.1278	--	DIRECT
Worm Phenotype (WP)	developmental growth variant	0	0.5677	--	DIRECT
Worm Phenotype (WP)	hermaphrodite fertility reduced	0	0.1672	--	DIRECT
Worm Phenotype (WP)	fertility reduced	0	0.09267	--	DIRECT
Worm Phenotype (WP)	organism UV response variant	0.0000000004322	1.862	--	DIRECT
Worm Phenotype (WP)	light response variant	0.0000000005758	1.862	--	DIRECT
Worm Phenotype (WP)	behavior variant	0.00332	0.632	--	INHERITED FROM: light response variant || organism UV hypersensitive || organism UV response variant
Worm Phenotype (WP)	gene expression variant	0.0712	0.6038	--	INHERITED FROM: protein expression variant
Worm Phenotype (WP)	physiology variant	1	0	--	INHERITED FROM: hermaphrodite fertility variant || developmental growth variant || retarded heterochronic variations || larval lethal || reproductive system physiology variant || organism homeostasis metabolism variant || lethal || larval development variant || sterile progeny || organism physiology variant || progeny variant || organism stress response variant || slow growth || organism UV hypersensitive || development variant || developmental timing variant || hermaphrodite sterile || growth variant || hermaphrodite fertility reduced || embryonic development variant || embryonic lethal || larval growth variant || general pace of development variant || fertility variant || light response variant || postembryonic development variant || larval arrest || organ system physiology variant || protein expression variant || maternal sterile || organism development variant || organism UV response variant || fertility reduced
Worm Phenotype (WP)	sterile	1	0.161	--	INHERITED FROM: hermaphrodite sterile || maternal sterile || sterile progeny
Worm Phenotype (WP)	general pace of development variant	0	0.5708	Least Informative	DIRECT
Worm Phenotype (WP)	larval lethal	0	0.6947	Least Informative	DIRECT
Worm Phenotype (WP)	retarded heterochronic variations	0	0.5373	Least Informative	DIRECT
Worm Phenotype (WP)	larval development variant	0	0.5007	Least Informative	DIRECT
Worm Phenotype (WP)	larval growth variant	0	0.5677	Least Informative	DIRECT
Worm Phenotype (WP)	organism behavior variant	0.003208	0.632	Least Informative	INHERITED FROM: organism UV hypersensitive || light response variant || organism UV response variant
Worm Phenotype (WP)	organism environmental stimulus response variant	0.004107	0.5677	Least Informative	INHERITED FROM: organism UV hypersensitive || organism UV response variant || organism stress response variant
Worm Phenotype (WP)	organism metabolism processing variant	0.1688	0.4572	Least Informative	INHERITED FROM: protein expression variant
Worm Phenotype (WP)	sterile progeny	0	0.7582	Moderately Informative	DIRECT
Worm Phenotype (WP)	organism stress response variant	0.0002054	0.8325	Moderately Informative	DIRECT
Worm Phenotype (WP)	protein expression variant	0.0006893	1.117	Moderately Informative	DIRECT
Worm Phenotype (WP)	organism UV hypersensitive	0.00000000009842	1.929	Highly Informative	DIRECT

---

Fly Phenotype (FP)

Highlighted in gray are those with FDR_all>0.001

	FP term	FDR (all)	IC level	SDFP level	Annotation (direct or inherited)
Fly Phenotype (FP)	phenotype	0	0.05522	--	DIRECT
Fly Phenotype (FP)	increased mortality during development	0	0.6799	--	DIRECT
Fly Phenotype (FP)	some die during pupal stage	0.000092	2.303	--	DIRECT
Fly Phenotype (FP)	increased mortality	0	0.5628	Least Informative	DIRECT
Fly Phenotype (FP)	lethal	0	0.798	Moderately Informative	DIRECT
Fly Phenotype (FP)	modifier of variegation	0.00006137	1.525	Informative	DIRECT
Fly Phenotype (FP)	some die during P-stage	0.008105	2.002	Highly Informative	INHERITED FROM: some die during pupal stage

---

Fly Anatomy (FA)

Highlighted in gray are those with FDR_all>0.001

	FA term	FDR (all)	IC level	SDFA level	Annotation (direct or inherited)
Fly Anatomy (FA)	organism	0	0.07918	--	DIRECT
Fly Anatomy (FA)	tagma	0	0.6478	--	DIRECT
Fly Anatomy (FA)	segment	0	0.812	--	DIRECT
Fly Anatomy (FA)	organ system	0	0.2279	--	DIRECT
Fly Anatomy (FA)	integumentary system	0	0.8617	--	DIRECT
Fly Anatomy (FA)	multicellular structure	0	0.009143	--	DIRECT
Fly Anatomy (FA)	anatomical structure	1	0	--	INHERITED FROM: organism || adult || segment || region of integument || adult tagma || adult segment || tagma || organ system subdivision || organ system || organism subdivision || integumentary system || multicellular structure
Fly Anatomy (FA)	material anatomical entity	1	0	--	INHERITED FROM: organ system || organism subdivision || integumentary system || multicellular structure || adult tagma || adult segment || tagma || organ system subdivision || region of integument || segment || adult || organism
Fly Anatomy (FA)	anterior-posterior subdivision of organism	1	0.632	--	INHERITED FROM: tagma || adult segment || adult tagma || segment
Fly Anatomy (FA)	adult	0	0.5607	Least Informative	DIRECT
Fly Anatomy (FA)	organism subdivision	0	0.6243	Least Informative	DIRECT
Fly Anatomy (FA)	organ system subdivision	0	0.5673	Least Informative	DIRECT
Fly Anatomy (FA)	adult tagma	0	0.7674	Moderately Informative	DIRECT
Fly Anatomy (FA)	adult segment	0	0.9652	Moderately Informative	DIRECT
Fly Anatomy (FA)	region of integument	0	1.038	Moderately Informative	DIRECT

---

Xenopus Anatomy (XA)

Highlighted in gray are those with FDR_all>0.001

	XA term	FDR (all)	IC level	SDXA level	Annotation (direct or inherited)
Xenopus ANatomical entity (XAN)	head region	0	0.5108	--	DIRECT
Xenopus ANatomical entity (XAN)	central nervous system	0	0.6506	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical structure	0	0	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical group	0	0.1442	--	DIRECT
Xenopus ANatomical entity (XAN)	organism subdivision	0	0.1871	--	DIRECT
Xenopus ANatomical entity (XAN)	compound organ	0	0.24	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical region	0	0.193	--	DIRECT
Xenopus ANatomical entity (XAN)	multicellular anatomical structure	0	0.1217	--	DIRECT
Xenopus ANatomical entity (XAN)	pronephric nephron	0.00661	1.983	--	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	coelom	0.009811	1.682	--	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	kidney	0.03451	1.615	--	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	embryonic kidney	0.08846	1.72	--	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	pronephric kidney	0.1053	1.858	--	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	trunk region	0.3382	0.4287	--	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	anatomical system	1	0.3094	--	INHERITED FROM: nervous system || pronephric tubule || central nervous system
Xenopus ANatomical entity (XAN)	whole organism	1	0.09747	--	INHERITED FROM: head region || pronephric tubule || nervous system || anatomical group || cavitated compound organ || multicellular anatomical structure || compound organ || anatomical region || central nervous system || organism subdivision || head
Xenopus ANatomical entity (XAN)	nervous system	0	0.6341	Least Informative	DIRECT
Xenopus ANatomical entity (XAN)	head	0	0.5108	Least Informative	DIRECT
Xenopus ANatomical entity (XAN)	cavitated compound organ	0	0.3033	Least Informative	DIRECT
Xenopus ANatomical entity (XAN)	embryo	0.09156	0.6341	Least Informative	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	tissue	0.1027	0.5011	Least Informative	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	urogenital system	0.1891	0.5011	Least Informative	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	trunk	0.3113	0.4308	Least Informative	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	multi-tissue structure	0.01072	1.071	Moderately Informative	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	anatomical space	0.01215	1.482	Informative	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	urinary system	0.0241	1.531	Informative	INHERITED FROM: pronephric tubule
Xenopus ANatomical entity (XAN)	pronephric tubule	0.0007177	1.983	Highly Informative	DIRECT
Xenopus DEvelopment stage (XDE)	NF stage	0	0.02327	--	DIRECT

---

Arabidopsis Plant Ontology (AP)

Highlighted in gray are those with FDR_all>0.001

	AP term	FDR (all)	IC level	SDAP level	Annotation (direct or inherited)
Plant ANatomical entity (PAN)	phyllome	0	0.3809	--	DIRECT
Plant ANatomical entity (PAN)	plant cell	0	0.1489	--	DIRECT
Plant ANatomical entity (PAN)	shoot system	0	0.05747	--	DIRECT
Plant ANatomical entity (PAN)	plant organ	0	0.2816	--	DIRECT
Plant ANatomical entity (PAN)	sporophyll	0	0.4713	--	DIRECT
Plant ANatomical entity (PAN)	multi-tissue plant structure	0	0.2691	--	DIRECT
Plant ANatomical entity (PAN)	collective plant structure	0	0.01577	--	DIRECT
Plant ANatomical entity (PAN)	plant structure	1	0	--	INHERITED FROM: sporophyll || collective plant structure || phyllome || multi-tissue plant structure || microsporophyll || shoot system || plant organ || whole plant || plant cell || seed
Plant ANatomical entity (PAN)	collective plant organ structure	1	0.04502	--	INHERITED FROM: sporophyll || phyllome || microsporophyll || shoot system
Plant ANatomical entity (PAN)	whole plant	0	0.4218	Least Informative	DIRECT
Plant ANatomical entity (PAN)	seed	0	0.6087	Least Informative	DIRECT
Plant ANatomical entity (PAN)	microsporophyll	0	0.5029	Least Informative	DIRECT
Plant structure DEvelopment stage (PDE)	whole plant development stage	0	0.1968	--	DIRECT
Plant structure DEvelopment stage (PDE)	sporophyte vegetative stage	0	0.2036	--	DIRECT
Plant structure DEvelopment stage (PDE)	floral organ differentiation stage	0	0.0937	--	DIRECT
Plant structure DEvelopment stage (PDE)	plant embryo stage	0	0.2833	--	DIRECT
Plant structure DEvelopment stage (PDE)	collective plant organ structure development stage	0	0.03771	--	DIRECT
Plant structure DEvelopment stage (PDE)	plant organ development stage	0	0.08108	--	DIRECT
Plant structure DEvelopment stage (PDE)	reproductive shoot system development stage	0	0.05008	--	DIRECT
Plant structure DEvelopment stage (PDE)	collective phyllome structure development stage	0	0.0937	--	DIRECT
Plant structure DEvelopment stage (PDE)	floral organ formation stage	0	0.0937	--	DIRECT
Plant structure DEvelopment stage (PDE)	flower development stage	1	0.07083	--	INHERITED FROM: floral organ differentiation stage || floral organ formation stage
Plant structure DEvelopment stage (PDE)	life of whole plant stage	1	0.2022	--	INHERITED FROM: sporophyte vegetative stage || E expanded cotyledon stage || plant embryo stage
Plant structure DEvelopment stage (PDE)	shoot system development stage	1	0.04053	--	INHERITED FROM: reproductive shoot system development stage || floral organ formation stage || floral organ differentiation stage || plant organ development stage
Plant structure DEvelopment stage (PDE)	sporophyte development stage	1	0.2022	--	INHERITED FROM: E expanded cotyledon stage || sporophyte vegetative stage || plant embryo stage
Plant structure DEvelopment stage (PDE)	E expanded cotyledon stage	0	0.353	Least Informative	DIRECT

---

InterPro annotation

• Cross references: IPR001606 SSF46774 Protein matches
• Abstract:

  Members of the recently discovered ARID (AT-rich interaction domain) family of DNA-binding proteins are found in fungi and invertebrate and vertebrate metazoans. ARID-encoding genes are involved in a variety of biological processes including embryonic development, cell lineage gene regulation and cell cycle control. Although the specific roles of this domain and of ARID-containing proteins in transcriptional regulation are yet to be elucidated, they include both positive and negative transcriptional regulation and a likely involvement in the modification of chromatin structure [10838570]. The basic structure of the ARID domain domain appears to be a series of six alpha-helices separated by beta-strands, loops, or turns, but the structured region may extend to an additional helix at either or both ends of the basic six. Based on primary sequence homology, they can be partitioned into three structural classes: Minimal ARID proteins that consist of a core domain formed by six alpha helices; ARID proteins that supplement the core domain with an N-terminal alpha-helix; and Extended-ARID proteins, which contain the core domain and additional alpha-helices at their N- and C-termini.

  The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity. The ARID consensus and other structural features are common to both p270 and yeast SWI1, suggesting that p270 is a human counterpart of SWI1 [10757798]. The approximately 100-residue ARID sequence is present in a series of proteins strongly implicated in the regulation of cell growth, development, and tissue-specific gene expression. Although about a dozen ARID proteins can be identified from database searches, to date, only Bright (a regulator of B-cell-specific gene expression), dead ringer (a Drosophila melanogaster gene product required for normal development), and MRF-2 (which represses expression from the Cytomegalovirus enhancer) have been analyzed directly in regard to their DNA binding properties. Each binds preferentially to AT-rich sites. In contrast, p270 shows no sequence preference in its DNA binding activity, thereby demonstrating that AT-rich binding is not an intrinsic property of ARID domains and that ARID family proteins may be involved in a wider range of DNA interactions [10757798].

InterPro database

---