# GeDiPNet Shared-Gene Disease Pairs -- generated 2026-10-20 05:07:29 # Similarity: Jaccard index on shared curated genes (disease_gdp). Significance: upper-tail hypergeometric test (P(X>=k)), Benjamini-Hochberg FDR-corrected across all tested pairs. Corroborated Shared Genes: count of shared genes backed by >=2 distinct disease_gdp.main_source values combined across both diseases (e.g. GWAS-backed for one, ClinVar-backed for the other still counts); Shared Gene Names lists each gene's own source count in parentheses. Overlap Coefficient: shared genes / MIN(each disease's own total gene count) -- complements the Jaccard-based Similarity Score by showing how much of the SMALLER disease's entire known gene-set is covered by this pair, which Jaccard (dividing by the union) can understate. Shared Cluster: cluster id if both diseases fall in the same label-propagation cluster (scripts/build_disease_clusters.php), blank otherwise. See scripts/build_related.php on gedipnet.bicnirrh.res.in. Data as of: 2026-10-20 03:00:20. Filters applied: disease name contains "Retinal dystrophy" (143 matching pairs). Disease A Disease B Shared Genes Corroborated Shared Genes Shared Gene Names Similarity Score Overlap Coefficient P-value FDR Q-value Shared Cluster Cone-rod dystrophy Retinal dystrophy 6 6 RPGRIP1 (7), RPE65 (2), CLN3 (2), SCLT1 (2), ARL6 (2), GUCA1B (2) 0.06818 0.35294 1.354e-10 1.253e-9 Inherited retinal dystrophy Leber congenital amaurosis 6 6 LRAT (8), PDE6B (2), CRB1 (8), SPATA7 (9), NR2E3 (2), KCNJ13 (8) 0.06977 0.33333 1.578e-10 1.454e-9 Inherited retinal dystrophy Stargardt disease 4 4 LRAT (2), CRB1 (2), SPATA7 (2), KCNV2 (2) 0.09302 0.22222 2.569e-8 1.922e-7 Doyne honeycomb retinal dystrophy Thrombotic microangiopathy 2 1 CFI (1), CFH (2) 0.33333 0.66667 1.501e-7 1.022e-6 Nystagmus Retinal dystrophy 4 4 RPGRIP1 (3), RPE65 (3), SCLT1 (2), SGSH (2) 0.06667 0.23529 1.575e-7 1.072e-6 Inherited retinal dystrophy Oguchi disease 3 3 PDE6B (2), GNAT1 (2), SLC24A1 (2) 0.10000 0.21429 4.760e-7 3.038e-6 Atypical hemolytic uremic syndrome Doyne honeycomb retinal dystrophy 2 2 CFI (3), CFH (4) 0.20000 0.50000 1.050e-6 6.377e-6 Bietti crystalline corneoretinal dystrophy Hereditary corneal dystrophy 2 1 CYP4V2 (7), KLKB1 (1) 0.14286 0.66667 1.650e-6 9.791e-6 Inherited retinal dystrophy Night blindness, congenital stationary 3 3 PDE6B (8), GNAT1 (7), SLC24A1 (6) 0.06977 0.16667 3.789e-6 2.145e-5 Dominant retinopathy Retinal dystrophy 2 2 RPE65 (2), SNRNP200 (2) 0.08696 0.28571 2.374e-5 1.237e-4 Abri amyloidosis Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 1 1 ITM2B (2) 0.50000 1.00000 6.457e-5 1.985e-4 Acbd5 deficiency Retinal dystrophy with leukodystrophy 1 0 ACBD5 (1) 0.50000 1.00000 6.457e-5 1.985e-4 Acyl-coa binding domain containing protein 5 deficiency Retinal dystrophy with leukodystrophy 1 1 ACBD5 (3) 0.50000 1.00000 6.457e-5 1.985e-4 Agnathia-holoprosencephaly-situs inversus syndrome Retinal dystrophy, early-onset, with or without pituitary dysfunction 1 0 OTX2 (1) 0.50000 1.00000 6.457e-5 1.985e-4 415 Arts syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 1 1 PRPS1 (6) 0.50000 1.00000 6.457e-5 1.985e-4 347 Ataxia-hypogonadism-choroidal dystrophy syndrome Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome 1 1 PNPLA6 (4) 0.50000 1.00000 6.457e-5 1.985e-4 76 Ataxia-hypogonadism-choroidal dystrophy syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (4) 0.50000 1.00000 6.457e-5 1.985e-4 76 Axial spondylometaphyseal dysplasia Retinal dystrophy with or without macular staphyloma 1 1 CFAP410 (3) 0.50000 1.00000 6.457e-5 1.985e-4 Boucher-neuhauser syndrome Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome 1 1 PNPLA6 (4) 0.50000 1.00000 6.457e-5 1.985e-4 76 Boucher-neuhauser syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (3) 0.50000 1.00000 6.457e-5 1.985e-4 76 Cerebellar dysplasia with cysts with or without retinal dystrophy Poretti-boltshauser syndrome 1 0 LAMA1 (1) 0.50000 1.00000 6.457e-5 1.985e-4 564 Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 1 PNPLA6 (5) 0.50000 1.00000 6.457e-5 1.985e-4 76 Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (3) 0.50000 1.00000 6.457e-5 1.985e-4 76 Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Spastic paraplegia with or without ataxia 1 1 PNPLA6 (3) 0.50000 1.00000 6.457e-5 1.985e-4 76 Ectopic posterior pituitary Retinal dystrophy, early-onset, with or without pituitary dysfunction 1 0 OTX2 (1) 0.50000 1.00000 6.457e-5 1.985e-4 415 Familial danish dementia Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 1 1 ITM2B (2) 0.50000 1.00000 6.457e-5 1.985e-4 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Xy gonadal dysgenesis syndrome 1 1 PPP2R3C (2) 0.50000 1.00000 6.457e-5 1.985e-4 Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis Joubert syndrome 1 1 1 INPP5E (2) 0.50000 1.00000 6.457e-5 1.985e-4 329 Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis Mental retardation, truncal obesity, retinal dystrophy, and micropenis 1 1 INPP5E (2) 0.50000 1.00000 6.457e-5 1.985e-4 329 Joubert syndrome 1 Mental retardation, truncal obesity, retinal dystrophy, and micropenis 1 1 INPP5E (2) 0.50000 1.00000 6.457e-5 1.985e-4 329 Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Laurence-moon syndrome 1 1 PNPLA6 (3) 0.50000 1.00000 6.457e-5 1.985e-4 76 Laurence-moon syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (2) 0.50000 1.00000 6.457e-5 1.985e-4 76 Microphthalmia, isolated, with coloboma 10 Progressive retinal dystrophy due to retinol transport defect 1 1 RBP4 (2) 0.50000 1.00000 6.457e-5 1.985e-4 Microphthalmia, isolated, with coloboma 10 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 1 0 RBP4 (1) 0.50000 1.00000 6.457e-5 1.985e-4 Microphthalmia, syndromic 5 Retinal dystrophy, early-onset, with or without pituitary dysfunction 1 0 OTX2 (1) 0.50000 1.00000 6.457e-5 1.985e-4 415 Microphthalmia/coloboma 10 Progressive retinal dystrophy due to retinol transport defect 1 1 RBP4 (2) 0.50000 1.00000 6.457e-5 1.985e-4 Microphthalmia/coloboma 10 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 1 0 RBP4 (1) 0.50000 1.00000 6.457e-5 1.985e-4 Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Oliver-mcfarlane syndrome 1 1 PNPLA6 (3) 0.50000 1.00000 6.457e-5 1.985e-4 76 Oliver-mcfarlane syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (2) 0.50000 1.00000 6.457e-5 1.985e-4 76 Phosphoribosylpyrophosphate synthetase superactivity X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 1 1 PRPS1 (5) 0.50000 1.00000 6.457e-5 1.985e-4 347 Progressive retinal dystrophy due to retinol transport defect Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 1 1 RBP4 (2) 0.50000 1.00000 6.457e-5 1.985e-4 PRPS1 deficiency disorder X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 1 1 PRPS1 (2) 0.50000 1.00000 6.457e-5 1.985e-4 347 Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 1 PNPLA6 (5) 0.50000 1.00000 6.457e-5 1.985e-4 76 Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome Spastic paraplegia with or without ataxia 1 0 PNPLA6 (1) 0.50000 1.00000 6.457e-5 1.985e-4 76 Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome Rosah syndrome 1 1 ALPK1 (2) 0.50000 1.00000 6.457e-5 1.985e-4 Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Spastic paraplegia 39, autosomal recessive 1 1 PNPLA6 (3) 0.50000 1.00000 6.457e-5 1.985e-4 76 Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome Spastic paraplegia 39, autosomal recessive 1 1 PNPLA6 (2) 0.50000 1.00000 6.457e-5 1.985e-4 76 Inherited retinal dystrophy Nanophthalmos 2 2 CRB1 (2), C1QTNF5 (2) 0.06897 0.16667 8.362e-5 2.563e-4 Ataxia with deafness and vision loss X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 1 0 PRPS1 (1) 0.33333 1.00000 1.291e-4 3.269e-4 347 Bothnia retinal dystrophy Fundus albipunctatus 1 1 RLBP1 (7) 0.33333 1.00000 1.291e-4 3.269e-4 Cerebellar ataxia and hypogonadotropic hypogonadism Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome 1 1 PNPLA6 (3) 0.33333 1.00000 1.291e-4 3.269e-4 76 Cerebellar ataxia and hypogonadotropic hypogonadism Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (3) 0.33333 1.00000 1.291e-4 3.269e-4 76 Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Cerebellar dysplasia with cysts with or without retinal dystrophy 1 1 LAMA1 (2) 0.33333 1.00000 1.291e-4 3.269e-4 564 Coats disease Retinal dystrophy with or without extraocular anomalies 1 0 RCBTB1 (1) 0.33333 1.00000 1.291e-4 3.269e-4 256 Congenital hypoplasia of femur Mental retardation, truncal obesity, retinal dystrophy, and micropenis 1 1 INPP5E (3) 0.33333 1.00000 1.291e-4 3.269e-4 329 Congenital hypoplasia of femur Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis 1 1 INPP5E (2) 0.33333 1.00000 1.291e-4 3.269e-4 329 Retinal dystrophy, juvenile cataracts, and short stature syndrome Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1 1 RDH11 (4) 0.33333 1.00000 1.291e-4 3.269e-4 Atrophic retina Bietti crystalline corneoretinal dystrophy 1 0 ABCA4 (1) 0.25000 1.00000 1.937e-4 4.414e-4 Bietti crystalline corneoretinal dystrophy Fundus flavimaculatus 1 1 ABCA4 (2) 0.25000 1.00000 1.937e-4 4.414e-4 Bietti crystalline corneoretinal dystrophy Congenital prekallikrein deficiency 1 1 KLKB1 (3) 0.25000 1.00000 1.937e-4 4.414e-4 566 Bietti crystalline corneoretinal dystrophy Inherited prekallikrein deficiency 1 1 KLKB1 (2) 0.25000 1.00000 1.937e-4 4.414e-4 566 Bietti crystalline corneoretinal dystrophy Coagulation disorder 1 1 KLKB1 (2) 0.25000 1.00000 1.937e-4 4.414e-4 566 Bietti crystalline corneoretinal dystrophy Fletcher factor (prekallikrein) deficiency 1 1 KLKB1 (2) 0.25000 1.00000 1.937e-4 4.414e-4 566 Congenital hernia of foramen of bochdalek Doyne honeycomb retinal dystrophy 1 1 EFEMP1 (7) 0.20000 1.00000 2.583e-4 5.384e-4 103 Cutis laxa, autosomal recessive, type id Doyne honeycomb retinal dystrophy 1 1 EFEMP1 (7) 0.20000 1.00000 2.583e-4 5.384e-4 103 Doyne honeycomb degeneration of retina Doyne honeycomb retinal dystrophy 1 1 EFEMP1 (7) 0.20000 1.00000 2.583e-4 5.384e-4 103 Microphthalmia, isolated, with coloboma Progressive retinal dystrophy due to retinol transport defect 1 1 RBP4 (2) 0.20000 1.00000 2.583e-4 5.384e-4 Patterned macular dystrophy Retinal dystrophy, early-onset, with or without pituitary dysfunction 1 1 OTX2 (2) 0.20000 1.00000 2.583e-4 5.384e-4 415 Microphthalmia, isolated, with coloboma Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 1 0 RBP4 (1) 0.20000 1.00000 2.583e-4 5.384e-4 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked nonsyndromic hearing loss 1 1 PRPS1 (3) 0.20000 1.00000 2.583e-4 5.384e-4 347 Ataxia with oculomotor apraxia Cerebellar dysplasia with cysts with or without retinal dystrophy 1 1 LAMA1 (4) 0.16667 1.00000 3.228e-4 6.412e-4 564 Coach syndrome Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis 1 1 INPP5E (2) 0.16667 1.00000 3.228e-4 6.412e-4 329 Congenital hemivertebra Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis 1 1 INPP5E (2) 0.16667 1.00000 3.228e-4 6.412e-4 329 Coach syndrome Mental retardation, truncal obesity, retinal dystrophy, and micropenis 1 1 INPP5E (3) 0.16667 1.00000 3.228e-4 6.412e-4 329 Congenital hemivertebra Mental retardation, truncal obesity, retinal dystrophy, and micropenis 1 1 INPP5E (3) 0.16667 1.00000 3.228e-4 6.412e-4 329 Bilateral microphthalmos Progressive retinal dystrophy due to retinol transport defect 1 1 RBP4 (2) 0.16667 1.00000 3.228e-4 6.412e-4 Butterfly-shaped pigmentary macular dystrophy Retinal dystrophy, early-onset, with or without pituitary dysfunction 1 1 OTX2 (3) 0.16667 1.00000 3.228e-4 6.412e-4 415 Bilateral microphthalmos Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 1 1 RBP4 (2) 0.16667 1.00000 3.228e-4 6.412e-4 Progressive retinal dystrophy due to retinol transport defect Vitamin a deficiency 1 1 RBP4 (3) 0.16667 1.00000 3.228e-4 6.412e-4 Bothnia retinal dystrophy Retinitis punctata albescens 1 1 RLBP1 (7) 0.14286 1.00000 3.874e-4 7.329e-4 Neurodevelopmental delay Retinal dystrophy, juvenile cataracts, and short stature syndrome 1 0 RDH11 (1) 0.14286 1.00000 3.874e-4 7.329e-4 Exudative retinopathy Retinal dystrophy with or without extraocular anomalies 1 1 RCBTB1 (2) 0.12500 1.00000 4.520e-4 8.260e-4 256 Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Mucolipidosis 1 1 PNPLA6 (2) 0.12500 1.00000 4.520e-4 8.260e-4 76 Mucolipidosis Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (2) 0.12500 1.00000 4.520e-4 8.260e-4 76 Doyne honeycomb retinal dystrophy Factor i deficiency 1 1 CFI (3) 0.16667 0.50000 5.165e-4 9.125e-4 Doyne honeycomb retinal dystrophy Retinitis pigmentosa, digenic 1 0 PRPH2 (1) 0.16667 0.50000 5.165e-4 9.125e-4 Corneal ulcer Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 1 1 ALPK1 (3) 0.10000 1.00000 5.811e-4 1.000e-3 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Male infertility globozoospermia 1 1 PPP2R3C (2) 0.10000 1.00000 5.811e-4 1.000e-3 Exudative vitreoretinopathy Retinal dystrophy with or without extraocular anomalies 1 1 RCBTB1 (2) 0.07692 1.00000 7.748e-4 1.247e-3 256 Retinal dystrophy with or without macular staphyloma Spondylometaphyseal dysplasia 1 1 CFAP410 (3) 0.06667 1.00000 9.039e-4 1.411e-3 Nephrosclerosis Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 1 1 ALPK1 (4) 0.06667 1.00000 9.039e-4 1.411e-3 Bietti crystalline corneoretinal dystrophy Choroideremia 1 1 CYP4V2 (7) 0.12500 0.33333 9.682e-4 1.496e-3 Gouty arthritis Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 1 1 ALPK1 (3) 0.06250 1.00000 9.685e-4 1.496e-3 Abnormal muscle physiology Retinal dystrophy 1 0 POC5 (1) 0.05556 1.00000 1.098e-3 1.651e-3 Axonal neuropathy and neurodevelopmental disorder (digfan syndrome) Retinal dystrophy 1 0 MORC2 (1) 0.05556 1.00000 1.098e-3 1.651e-3 Charcot-Marie-Tooth disease axonal type 2Z Retinal dystrophy 1 1 MORC2 (2) 0.05556 1.00000 1.098e-3 1.651e-3 Fetal anomalies Retinal dystrophy 1 0 SCLT1 (1) 0.05556 1.00000 1.098e-3 1.651e-3 Maternally-inherited diabetes and deafness Retinal dystrophy 1 0 TRNL1 (1) 0.05556 1.00000 1.098e-3 1.651e-3 Mucopolysaccharidosis type 3A Retinal dystrophy 1 1 SGSH (2) 0.05556 1.00000 1.098e-3 1.651e-3 Mucopolysaccharidosis type iiia (sanfilippo a) Retinal dystrophy 1 0 SGSH (1) 0.05556 1.00000 1.098e-3 1.651e-3 Muscle cramps Retinal dystrophy 1 0 POC5 (1) 0.05556 1.00000 1.098e-3 1.651e-3 Nephronophthisis 12 Retinal dystrophy 1 1 TTC21B (2) 0.05556 1.00000 1.098e-3 1.651e-3 Retinal dystrophy Retinitis pigmentosa with choroidal involvement 1 1 RPE65 (5) 0.05556 1.00000 1.098e-3 1.651e-3 Retinal dystrophy Senior-l??ken syndrome 1 0 SCLT1 (1) 0.05556 1.00000 1.098e-3 1.651e-3 Enhanced s-cone syndrome Inherited retinal dystrophy 1 1 NR2E3 (2) 0.05263 1.00000 1.162e-3 1.729e-3 Generalized resistance to thyroid hormone Inherited retinal dystrophy 1 0 THRB (1) 0.05263 1.00000 1.162e-3 1.729e-3 Goldmann-favre syndrome Inherited retinal dystrophy 1 1 NR2E3 (4) 0.05263 1.00000 1.162e-3 1.729e-3 Inherited retinal dystrophy Mucopolysaccharidosis type 3C 1 1 HGSNAT (2) 0.05263 1.00000 1.162e-3 1.729e-3 Inherited retinal dystrophy Mucopolysaccharidosis type iiic (sanfilippo c) 1 1 HGSNAT (2) 0.05263 1.00000 1.162e-3 1.729e-3 Inherited retinal dystrophy Pituitary resistance to thyroid hormone 1 0 THRB (1) 0.05263 1.00000 1.162e-3 1.729e-3 Inherited retinal dystrophy Refetoff syndrome 1 0 THRB (1) 0.05263 1.00000 1.162e-3 1.729e-3 Inherited retinal dystrophy Retinitis pigmentosa-12, autosomal recessive 1 1 CRB1 (2) 0.05263 1.00000 1.162e-3 1.729e-3 Inherited retinal dystrophy Snowflake vitreoretinal degeneration 1 1 KCNJ13 (2) 0.05263 1.00000 1.162e-3 1.729e-3 Inherited retinal dystrophy Sulfatidosis, juvenile, austin type 1 0 LOC100130207 (1) 0.05263 1.00000 1.162e-3 1.729e-3 Autosomal recessive mental retardation Cerebellar dysplasia with cysts with or without retinal dystrophy 1 0 LAMA1 (1) 0.04762 1.00000 1.291e-3 1.888e-3 Amyloidosis Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 1 0 ITM2B (1) 0.03846 1.00000 1.614e-3 2.265e-3 Bothnia retinal dystrophy Night blindness, congenital stationary 1 1 RLBP1 (7) 0.03571 1.00000 1.743e-3 2.422e-3 Cone rod dystrophy and hearing loss Retinal dystrophy 1 1 CEP250 (6) 0.05263 0.50000 2.194e-3 2.917e-3 Inherited retinal dystrophy Microphthalmia with retinitis pigmentosa and ocular anomalies 1 1 C1QTNF5 (2) 0.05000 0.50000 2.323e-3 3.054e-3 Cone dystrophy Retinal dystrophy with or without macular staphyloma 1 1 CFAP410 (2) 0.02500 1.00000 2.518e-3 3.269e-3 Bothnia retinal dystrophy Macular degeneration 1 1 RLBP1 (7) 0.01449 1.00000 4.390e-3 5.339e-3 Cerebral amyloid angiopathy Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 1 1 ITM2B (3) 0.01389 1.00000 4.584e-3 5.544e-3 Leber congenital amaurosis Retinal dystrophy with or without macular staphyloma 1 1 CFAP410 (2) 0.01351 1.00000 4.713e-3 5.685e-3 Bothnia retinal dystrophy Cone-rod dystrophy 1 1 RLBP1 (7) 0.01299 1.00000 4.907e-3 5.888e-3 Cone-rod dystrophy Retinal dystrophy with leukodystrophy 1 1 ACBD5 (2) 0.01299 1.00000 4.907e-3 5.888e-3 Cone-rod dystrophy Retinal dystrophy with or without macular staphyloma 1 1 CFAP410 (4) 0.01299 1.00000 4.907e-3 5.888e-3 Brain injuries Cerebellar dysplasia with cysts with or without retinal dystrophy 1 1 LAMA1 (2) 0.01235 1.00000 5.165e-3 6.162e-3 Retinal dystrophy with or without extraocular anomalies Retinopathy 1 1 RCBTB1 (2) 0.01111 1.00000 5.746e-3 6.781e-3 Eye disease Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 1 1 ALPK1 (3) 0.01042 1.00000 6.134e-3 7.207e-3 Essential tremor Retinal dystrophy and obesity 1 1 TUB (3) 0.00990 1.00000 6.457e-3 7.555e-3 271 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Spermatogenic failure 1 1 PPP2R3C (4) 0.00877 1.00000 7.296e-3 8.440e-3 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Vascular dementia 1 1 ITM2B (2) 0.00775 1.00000 8.264e-3 9.403e-3 Retinal dystrophy with leukodystrophy Thrombocytopenia 1 1 ACBD5 (2) 0.00699 1.00000 9.168e-3 1.032e-2 Optic atrophy Retinal dystrophy, juvenile cataracts, and short stature syndrome 1 1 RDH11 (2) 0.00526 1.00000 1.220e-2 1.348e-2 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Sclerosing cholangitis 1 1 PPP2R3C (2) 0.00431 1.00000 1.491e-2 1.630e-2 Ankylosing spondylitis Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 1 1 PPP2R3C (2) 0.00318 1.00000 2.021e-2 2.169e-2 Retinal dystrophy and obesity Retinitis pigmentosa 1 1 TUB (5) 0.00273 1.00000 2.357e-2 2.517e-2 Retinal dystrophy with leukodystrophy Retinitis pigmentosa 1 1 ACBD5 (2) 0.00273 1.00000 2.357e-2 2.517e-2 Retinal dystrophy with or without extraocular anomalies Retinitis pigmentosa 1 1 RCBTB1 (3) 0.00273 1.00000 2.357e-2 2.517e-2 Retinal dystrophy, juvenile cataracts, and short stature syndrome Retinitis pigmentosa 1 1 RDH11 (2) 0.00273 1.00000 2.357e-2 2.517e-2 Hearing loss Retinal dystrophy and obesity 1 1 TUB (2) 0.00251 1.00000 2.563e-2 2.720e-2 Coronary artery disease Retinal dystrophy and obesity 1 1 TUB (2) 0.00087 1.00000 7.373e-2 7.485e-2 Lung cancer Retinal dystrophy and obesity 1 1 TUB (2) 0.00075 1.00000 8.581e-2 8.671e-2