TaoMedAI/RareMedData huggingface dataset:
Gene: WFS1
Disease: Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome; DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Association type: UNKNOWN
Gene: PDX1
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: PDX1
Disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Association type: MENDELIAN
Gene: PDX1
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 (OMIM:606392)
Association type: MENDELIAN
Gene: PDX1
Disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Association type: UNKNOWN
Gene: PDX1
Disease: Partial pancreatic agenesis; Congenital pancreatic agenesis; Partial agenesis of the pancreas (ORPHA:2805)
Association type: UNKNOWN
Gene: PDX1
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: GCK
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: MENDELIAN
Gene: GCK
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 (OMIM:125851)
Association type: MENDELIAN
Gene: GCK
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Association type: MENDELIAN
Gene: GCK
Disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Association type: MENDELIAN
Gene: GCK
Disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Association type: UNKNOWN
Gene: GCK
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: GCK
Disease: Congenital glucokinase-related hyperinsulinism; Glucokinase-related hyperinsulinemic hypoglycemia (ORPHA:79299)
Association type: UNKNOWN
Gene: IGF2BP2
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: POLYGENIC
Gene: BRCA2
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 (OMIM:605724)
Association type: MENDELIAN
Gene: BRCA2
Disease: GLIOMA SUSCEPTIBILITY 3 (OMIM:613029)
Association type: POLYGENIC
Gene: BRCA2
Disease: WILMS TUMOR 1 (OMIM:194070)
Association type: MENDELIAN
Gene: BRCA2
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: BRCA2
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 (OMIM:613347)
Association type: POLYGENIC
Gene: BRCA2
Disease: PROSTATE CANCER (OMIM:176807)
Association type: POLYGENIC
Gene: BRCA2
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 (OMIM:612555)
Association type: POLYGENIC
Gene: BRCA2
Disease: MEDULLOBLASTOMA (OMIM:155255)
Association type: POLYGENIC
Gene: BRCA2
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: BRCA2
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: BRCA2
Disease: Chordoma; Notochordal sarcoma (ORPHA:178)
Association type: UNKNOWN
Gene: BRCA2
Disease:  (ORPHA:694963)
Association type: UNKNOWN
Gene: BRCA2
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: BRCA2
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: BRCA2
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: BRCA2
Disease: Cholangiocarcinoma; Bile duct cancer; CCA (ORPHA:70567)
Association type: UNKNOWN
Gene: BRCA2
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: BRCA2
Disease: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (ORPHA:319462)
Association type: UNKNOWN
Gene: BRCA2
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: SIGMAR1
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Association type: MENDELIAN
Gene: SIGMAR1
Disease: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
Association type: MENDELIAN
Gene: SIGMAR1
Disease: Distal hereditary motor neuropathy, Jerash type; Autosomal recessive distal spinal muscular atrophy type 2; dHMNJ (ORPHA:139552)
Association type: UNKNOWN
Gene: SIGMAR1
Disease: Juvenile amyotrophic lateral sclerosis; JALS; Juvenile Charcot disease; Juvenile Lou Gehrig disease (ORPHA:300605)
Association type: UNKNOWN
Gene: ICAM4
Disease: BLOOD GROUP SYSTEM, LANDSTEINER-WIENER (OMIM:111250)
Association type: MENDELIAN
Gene: RHBDF2
Disease: TYLOSIS WITH ESOPHAGEAL CANCER (OMIM:148500)
Association type: MENDELIAN
Gene: RHBDF2
Disease: Palmoplantar keratoderma-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Howell-Evans syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Tylosis-oesophageal carcinoma syndrome (ORPHA:2198)
Association type: UNKNOWN
Gene: WDR45
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Association type: MENDELIAN
Gene: WDR45
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894)
Association type: MENDELIAN
Gene: WDR45
Disease: Beta-propeller protein-associated neurodegeneration; BPAN; NBIA5; Neurodegeneration with brain iron accumulation type 5; SENDA; Static encephalopathy of childhood with neurodegeneration in adulthood (ORPHA:329284)
Association type: UNKNOWN
Gene: WDR45
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: LRMDA
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VII (OMIM:615179)
Association type: MENDELIAN
Gene: LRMDA
Disease: Oculocutaneous albinism type 7; OCA7 (ORPHA:352745)
Association type: UNKNOWN
Gene: KANK1
Disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2 (OMIM:612900)
Association type: MENDELIAN
Gene: KANK1
Disease: Inherited congenital spastic tetraplegia; Inherited congenital spastic quadriplegia (ORPHA:210141)
Association type: UNKNOWN
Gene: WNT7A
Disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Association type: MENDELIAN
Gene: WNT7A
Disease: SANTOS SYNDROME (OMIM:613005)
Association type: MENDELIAN
Gene: WNT7A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: WNT7A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WNT7A
Disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Association type: MENDELIAN
Gene: WNT7A
Disease: Fuhrmann syndrome; Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome; Fuhrmann-Rieger-de Sousa syndrome (ORPHA:2854)
Association type: UNKNOWN
Gene: WNT7A
Disease: Phocomelia, Schinzel type; Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Congenital absence of ulna and fibula; Severe limb deficit (ORPHA:2879)
Association type: UNKNOWN
Gene: DSP
Disease: KERATOSIS PALMOPLANTARIS STRIATA II (OMIM:612908)
Association type: MENDELIAN
Gene: DSP
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA (OMIM:605676)
Association type: MENDELIAN
Gene: DSP
Disease: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (OMIM:609638)
Association type: MENDELIAN
Gene: DSP
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS (OMIM:615821)
Association type: MENDELIAN
Gene: DSP
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (OMIM:607450)
Association type: MENDELIAN
Gene: DSP
Disease: Severe dermatitis-multiple allergies-metabolic wasting syndrome; Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome; SAM syndrome (ORPHA:369992)
Association type: UNKNOWN
Gene: DSP
Disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Association type: UNKNOWN
Gene: DSP
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: DSP
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: DSP
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN
Gene: DSP
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: DSP
Disease: Carvajal syndrome; KWWH type II; Keratoderma with woolly hair type II; Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome (ORPHA:65282)
Association type: UNKNOWN
Gene: DSP
Disease: Erythrokeratodermia-cardiomyopathy syndrome; EKC syndrome (ORPHA:476096)
Association type: UNKNOWN
Gene: DSP
Disease: Striate palmoplantar keratoderma; Keratosis palmoplantaris striata; Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Association type: UNKNOWN
Gene: DSP
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: DSP
Disease: Skin fragility-woolly hair-palmoplantar keratoderma syndrome; Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome (ORPHA:293165)
Association type: UNKNOWN
Gene: PAX6
Disease: FOVEAL HYPOPLASIA 1 (OMIM:136520)
Association type: MENDELIAN
Gene: PAX6
Disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Association type: MENDELIAN
Gene: PAX6
Disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Association type: MENDELIAN
Gene: PAX6
Disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Association type: MENDELIAN
Gene: PAX6
Disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Association type: MENDELIAN
Gene: PAX6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PAX6
Disease: COLOBOMA OF OPTIC NERVE (OMIM:120430)
Association type: MENDELIAN
Gene: PAX6
Disease: ANIRIDIA 1 (OMIM:106210)
Association type: MENDELIAN
Gene: PAX6
Disease: KERATITIS, HEREDITARY (OMIM:148190)
Association type: MENDELIAN
Gene: PAX6
Disease: Isolated aniridia (ORPHA:250923)
Association type: UNKNOWN
Gene: PAX6
Disease: WAGR syndrome; Del(11)(p13); Deletion 11p13; Monosomy 11p13; Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome (ORPHA:893)
Association type: UNKNOWN
Gene: PAX6
Disease: Coloboma of optic disc; Coloboma of optic papilla (ORPHA:98947)
Association type: UNKNOWN
Gene: PAX6
Disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Association type: UNKNOWN
Gene: PAX6
Disease: Coloboma of eye lens (ORPHA:98943)
Association type: UNKNOWN
Gene: PAX6
Disease: Coloboma of iris (ORPHA:98944)
Association type: UNKNOWN
Gene: PAX6
Disease: Coloboma of macula (ORPHA:98945)
Association type: UNKNOWN
Gene: PAX6
Disease: Coloboma of eyelid (ORPHA:98946)
Association type: UNKNOWN
Gene: PAX6
Disease: Coloboma of choroid and retina (ORPHA:98942)
Association type: UNKNOWN
Gene: PAX6
Disease: Autosomal dominant keratitis; Hereditary keratitis (ORPHA:2334)
Association type: UNKNOWN
Gene: PAX6
Disease: Peters anomaly; Peters congenital glaucoma (ORPHA:708)
Association type: UNKNOWN
Gene: PAX6
Disease: Morning glory disc anomaly; Ectasic coloboma; Morning glory syndrome (ORPHA:35737)
Association type: UNKNOWN
Gene: PAX6
Disease: Foveal hypoplasia-presenile cataract syndrome; O'Donnell-Pappas syndrome (ORPHA:2253)
Association type: UNKNOWN
Gene: APP
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (OMIM:605714)
Association type: MENDELIAN
Gene: APP
Disease: ALZHEIMER DISEASE (OMIM:104300)
Association type: MENDELIAN
Gene: APP
Disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Familial Alzheimer disease (ORPHA:1020)
Association type: UNKNOWN
Gene: APP
Disease: ABeta amyloidosis, Arctic type; ABetaE22G amyloidosis; HCHWA, Arctic type; Hereditary cerebral hemorrhage with amyloidosis, Arctic type (ORPHA:324723)
Association type: UNKNOWN
Gene: APP
Disease: ABetaA21G amyloidosis; ABeta amyloidosis, Flemish type; ABetaA21G-related amyloidosis; HCHWA, Flemish type; Hereditary cerebral hemorrhage with amyloidosis, Flemish type (ORPHA:324718)
Association type: UNKNOWN
Gene: APP
Disease: ABeta amyloidosis, Italian type; ABetaE22K amyloidosis; HCHWA, Italian type; Hereditary cerebral hemorrhage with amyloidosis, Italian type (ORPHA:324713)
Association type: UNKNOWN
Gene: APP
Disease: ABetaL34V amyloidosis; ABeta amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; HCHWA, Piedmont type; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type (ORPHA:324703)
Association type: UNKNOWN
Gene: APP
Disease: ABeta amyloidosis, Iowa type; ABetaD23N amyloidosis; HCHWA, Iowa type; Hereditary cerebral hemorrhage with amyloidosis, Iowa type (ORPHA:324708)
Association type: UNKNOWN
Gene: APP
Disease: ABeta amyloidosis, Dutch type; ABetaE22Q amyloidosis; HCHWA, Dutch type; HCHWA-D; Hereditary cerebral hemorrhage with amyloidosis, Dutch type (ORPHA:100006)
Association type: UNKNOWN
Gene: B3GALNT2
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 (OMIM:615181)
Association type: MENDELIAN
Gene: B3GALNT2
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: B3GALNT2
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: B3GALNT2
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: NFU1
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
Association type: MENDELIAN
Gene: NFU1
Disease:  (OMIM:620938)
Association type: MENDELIAN
Gene: NFU1
Disease: Multiple mitochondrial dysfunctions syndrome type 1; MMDS1; NFU1 deficiency (ORPHA:401869)
Association type: UNKNOWN
Gene: CRYAB
Disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Association type: MENDELIAN
Gene: CRYAB
Disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Association type: MENDELIAN
Gene: CRYAB
Disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Association type: MENDELIAN
Gene: CRYAB
Disease: Alpha-B crystallin-related late-onset myopathy; Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy (ORPHA:399058)
Association type: UNKNOWN
Gene: CRYAB
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: CRYAB
Disease: Fatal infantile hypertonic myofibrillar myopathy (ORPHA:280553)
Association type: UNKNOWN
Gene: CRYAB
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYAB
Disease: Early-onset posterior polar cataract (ORPHA:98993)
Association type: UNKNOWN
Gene: CRYAB
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: GNB4
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Association type: MENDELIAN
Gene: GNB4
Disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F; CMTDIF (ORPHA:352670)
Association type: UNKNOWN
Gene: SLC25A1
Disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Association type: MENDELIAN
Gene: SLC25A1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Association type: MENDELIAN
Gene: SLC25A1
Disease: D,L-2-hydroxyglutaric aciduria; Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia; Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria; D,L-2-HGA; D,L-2-hydroxyglutaric acidemia (ORPHA:356978)
Association type: UNKNOWN
Gene: SLC25A1
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: CRYGB
Disease: CATARACT 39, MULTIPLE TYPES (OMIM:615188)
Association type: MENDELIAN
Gene: CRYGB
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: CRYGB
Disease: Early-onset anterior polar cataract; Early-onset anterior subcapsular cataract (ORPHA:98988)
Association type: UNKNOWN
Gene: CRYGB
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: FH
Disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Association type: MENDELIAN
Gene: FH
Disease: FUMARASE DEFICIENCY (OMIM:606812)
Association type: MENDELIAN
Gene: FH
Disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Association type: UNKNOWN
Gene: FH
Disease: Hereditary leiomyomatosis and renal cell cancer; Familial leiomyomatosis and renal cell cancer; Familial leiomyomatosis cutis et uteri; Familial leiomyomatosis with renal carcinoma; Familial multiple cutaneous leiomyomas; HLRCC; Hereditary leiomyomatosis; Hereditary leiomyomatosis with renal carcinoma; Hereditary multiple cutaneous leiomyomas; MCUL; Multiple cutaneous and uterine leiomyomas; Reed syndrome (ORPHA:523)
Association type: UNKNOWN
Gene: FH
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: GPX4
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Association type: MENDELIAN
Gene: GPX4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GPX4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GPX4
Disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Association type: UNKNOWN
Gene: LAMB1
Disease: LISSENCEPHALY 5 (OMIM:615191)
Association type: MENDELIAN
Gene: LAMB1
Disease: Cobblestone lissencephaly without muscular or ocular involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement (ORPHA:352682)
Association type: UNKNOWN
Gene: FECH
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Association type: MENDELIAN
Gene: FECH
Disease: Autosomal erythropoietic protoporphyria; EPP (ORPHA:79278)
Association type: UNKNOWN
Gene: RTEL1
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190)
Association type: MENDELIAN
Gene: RTEL1
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 (OMIM:616373)
Association type: MENDELIAN
Gene: RTEL1
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: RTEL1
Disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Association type: UNKNOWN
Gene: RTEL1
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: NLRP7
Disease: HYDATIDIFORM MOLE, RECURRENT, 1 (OMIM:231090)
Association type: MENDELIAN
Gene: NLRP7
Disease: Partial hydatidiform mole; Incomplete hydatidiform mole; Incomplete molar pregnancy; Partial molar pregnancy (ORPHA:254693)
Association type: UNKNOWN
Gene: NLRP7
Disease: Complete hydatidiform mole; Complete molar pregnancy (ORPHA:254688)
Association type: UNKNOWN
Gene: ACTN1
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
Association type: MENDELIAN
Gene: ACTN1
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: LRRK1
Disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Association type: MENDELIAN
Gene: LRRK1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LRRK1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LRRK1
Disease: Osteosclerotic metaphyseal dysplasia (ORPHA:500548)
Association type: UNKNOWN
Gene: AQP2
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
Association type: MENDELIAN
Gene: AQP2
Disease: Arginine vasopressin resistance; Nephrogenic diabetes insipidus (ORPHA:223)
Association type: UNKNOWN
Gene: CD46
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 (OMIM:612922)
Association type: POLYGENIC
Gene: CD46
Disease: HELLP syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; Hemolysis-elevated liver enzymes-low platelets syndrome (ORPHA:244242)
Association type: UNKNOWN
Gene: CD46
Disease: Atypical hemolytic uremic syndrome with complement gene abnormality; Atypical HUS with complement gene abnormality; aHUS with complement gene abnormality (ORPHA:544472)
Association type: UNKNOWN
Gene: OBSL1
Disease: THREE M SYNDROME 2 (OMIM:612921)
Association type: MENDELIAN
Gene: OBSL1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: OBSL1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: OBSL1
Disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Association type: UNKNOWN
Gene: CFB
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Association type: POLYGENIC
Gene: CFB
Disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Association type: MENDELIAN
Gene: CFB
Disease: MACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)
Association type: POLYGENIC
Gene: CFB
Disease: Atypical hemolytic uremic syndrome with complement gene abnormality; Atypical HUS with complement gene abnormality; aHUS with complement gene abnormality (ORPHA:544472)
Association type: UNKNOWN
Gene: TBXAS1
Disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Association type: MENDELIAN
Gene: TBXAS1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TBXAS1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TBXAS1
Disease: Ghosal hematodiaphyseal dysplasia; Diaphyseal dysplasia-anemia syndrome; Ghosal syndrome (ORPHA:1802)
Association type: UNKNOWN
Gene: CFI
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Association type: POLYGENIC
Gene: CFI
Disease: MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
Association type: POLYGENIC
Gene: CFI
Disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Association type: MENDELIAN
Gene: CFI
Disease: De novo thrombotic microangiopathy after kidney transplantation (ORPHA:244275)
Association type: UNKNOWN
Gene: CFI
Disease: HELLP syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; Hemolysis-elevated liver enzymes-low platelets syndrome (ORPHA:244242)
Association type: UNKNOWN
Gene: CFI
Disease: Familial drusen; DHRD; Dominant drusen; Dominant radial drusen; Doyne honeycomb retinal dystrophy; Malattia leventinese (ORPHA:75376)
Association type: UNKNOWN
Gene: CFI
Disease: Atypical hemolytic uremic syndrome with complement gene abnormality; Atypical HUS with complement gene abnormality; aHUS with complement gene abnormality (ORPHA:544472)
Association type: UNKNOWN
Gene: CFI
Disease: Immunodeficiency with factor I anomaly; Complete factor I deficiency (ORPHA:200418)
Association type: UNKNOWN
Gene: THBD
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Association type: POLYGENIC
Gene: THBD
Disease: THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT (OMIM:614486)
Association type: MENDELIAN
Gene: THBD
Disease: Atypical hemolytic uremic syndrome with complement gene abnormality; Atypical HUS with complement gene abnormality; aHUS with complement gene abnormality (ORPHA:544472)
Association type: UNKNOWN
Gene: THBD
Disease: Thrombomodulin-related bleeding disorder; THBD-related bleeding disorder; THBD-related coagulopathy; Thrombomodulin-related coagulopathy (ORPHA:436169)
Association type: UNKNOWN
Gene: C3
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 (OMIM:612925)
Association type: POLYGENIC
Gene: C3
Disease: MACULAR DEGENERATION, AGE-RELATED, 9 (OMIM:611378)
Association type: POLYGENIC